(Q34092807)

31 July 2017

title

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening (English)

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31 July 2017

8

Wuh-Liang Hwu

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31 July 2017

Ni-Chung Lee

1

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Chun-An Chen

Chun-An Chen

4

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Yin-Hsiu Chien

Yin-Hsiu Chien

3

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Nelson Leung-Sang Tang

Nelson Leung-Sang Tang

2

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Pao-Chin Chiu

6

Pao-Chin Chiu

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31 July 2017

Sho-Juan Lin

5

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31 July 2017

Ai-Chu Huang

7

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31 July 2017

publication date

28 December 2009

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Molecular Genetics and Metabolism

31 July 2017

published in

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31 July 2017

volume

100

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31 July 2017

issue

1

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31 July 2017

page(s)

46-50

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Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

31 July 2017

cites work

1 reference

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Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency

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Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency

7 January 2021

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Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants

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Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

7 January 2021

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Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

7 January 2021

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Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

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7 January 2021

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Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry

7 January 2021

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7 January 2021

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Tandem Mass Neonatal Screening in Taiwan—Report from One Center

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A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients

7 January 2021

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Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan

7 January 2021

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Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency

7 January 2021

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Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests

7 January 2021

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Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2

7 January 2021

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Pharmacological rescue of carnitine transport in primary carnitine deficiency.

7 January 2021

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Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.

7 January 2021

1 reference

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10.1016/J.YMGME.2009.12.015

7 January 2021

Identifiers

DOI

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31 July 2017

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